Genetic architecture of Tourette syndrome: our current understanding

Domènech, Laura; Cappi, Carolina; Halvorsen, Matthew

doi:10.1017/s0033291721000234

Cited by 10 publications

(6 citation statements)

References 81 publications

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“…22 Comorbid depression was also found to positively correlate with tic severity in another study of 98 children and adolescents with TS. 23 These conditions share common genetic factors, 24,25 and the severity of both ADHD symptoms and motor tics have been associated with cortical disinhibition. 26…”

Section: Influence Of Mental Health Comorbiditiesmentioning

confidence: 99%

Have We Forgotten What Tics Are? A Re‐Exploration of Tic Phenomenology in Youth with Primary Tics

Martino

Fletcher

Pringsheim

2023

Movement Disord Clin Pract

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Background The first systematic description of tics in a large sample was in 1978. Objectives To assess the phenomenology of tics in youth and investigate how age and sex influence tic phenomenology. Methods Children and adolescents with primary tic disorders have been prospectively included in our Registry in Calgary, Canada, since 2017. We examined tic frequency and distribution using the Yale Global Tic Severity Scale, differences between sexes, and changes in tic severity with age and with mental health comorbidities. Results A total of 203 children and adolescents with primary tic disorders were included (76.4% males; mean age = 10.7 years, 95% CI = 10.3–11.1). At first assessment, the most common simple motor tics were eye blinking (57%), head jerks/movements (51%), eye movements (48%) and mouth movements (46%); 86% had at least one simple facial tic. The most frequent complex motor tics were tic‐related compulsive behaviors (19%). Throat clearing was the most common simple phonic tic (42%); 5% only had coprolalia. Females had higher frequency and intensity of motor tics than males (P = 0.032 and P = 0.006, respectively), associated with greater tic‐related impairment (P = 0.045). Age was positively correlated with the Total Tic Severity Score (coefficient 0.54, P = 0.005), along with the number, frequency and intensity of motor tics but not with their complexity. Psychiatric comorbidities were associated with greater tic severity. Conclusions Our study suggests that age and sex affect clinical presentation in youth with tics. The phenomenology of tics in our sample was similar to the 1978 description of tics, and contrasts with functional tic‐like behaviors.

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Section: Influence Of Mental Health Comorbiditiesmentioning

confidence: 99%

Have We Forgotten What Tics Are? A Re‐Exploration of Tic Phenomenology in Youth with Primary Tics

Martino

Fletcher

Pringsheim

2023

Movement Disord Clin Pract

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“…Most people with tics can suppress tics briefly with effort [ 21 ]. Finally, people with tics often have a close relative who also has a history of tics, obsessive compulsive disorder (OCD), or attention-deficit/hyperactivity disorder (ADHD), though family history is variable [ 41 ].…”

Section: Understanding Tourette Syndromementioning

confidence: 99%

Diagnosis and Management of Functional Tic-Like Phenomena

Malaty

Anderson²,

Bennett

et al. 2022

JCM

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Over the past 3 years, a global phenomenon has emerged characterized by the sudden onset and frequently rapid escalation of tics and tic-like movements and phonations. These symptoms have occurred not only in youth known to have tics or Tourette syndrome (TS), but also, and more notably, in youth with no prior history of tics. The Tourette Association of America (TAA) convened an international, multidisciplinary working group to better understand this apparent presentation of functional neurological disorder (FND) and its relationship to TS. Here, we review and summarize the literature relevant to distinguish the two, with recommendations to clinicians for diagnosis and management. Finally, we highlight areas for future emphasis and research.

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“…The exact genetic mechanism underlying TS is not yet fully understood, but it is thought to involve multiple genes that contribute to regulating neurotransmitters such as dopamine and serotonin, which are essential in controlling movement and behavior [5,6]. Recent advances in genetic sequencing technologies have enabled the identi cation of speci c genes associated with TS, which may lead to a better understanding of the underlying biology and the development of new treatments [7]. In addition, OCD, ADHD, and ASD are common TS comorbidities.…”

Section: Discussionmentioning

confidence: 99%

Tourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 gene

Niu

Zhan

Sun

et al. 2023

Preprint

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Background Gills de la Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder manifested by motor and vocal tics. Kleefstra syndrome 1 (KS1), a rare genetic disorder, is caused by haploinsufficiency of the EHMT1 gene and characterized by intellectual disability (ID), childhood hypotonia, and distinctive facial features. Tourette-like syndrome in KS1 has rarely been reported. Case presentation: Here we describe a 7-year-old girl presenting involuntary motor and vocal tics, intellectual disability, childhood hypotonia, and dysmorphic craniofacial appearances, as well as comorbidities including attention deficit-hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and self-injurious behavior (SIB). The patient’s CNV-seq testing revealed a de novo 320-kb deletion in the 9q34.3 region encompassing the EHMT1 gene. Conclusions This is the first case reporting Tourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 gene. Our case suggests TS with ID and facial anomalies indicate a genetic cause and broadens the phenotypic and genotypic spectrum of both TS and KS1.

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Genetic architecture of Tourette syndrome: our current understanding

Cited by 10 publications

References 81 publications

Have We Forgotten What Tics Are? A Re‐Exploration of Tic Phenomenology in Youth with Primary Tics

Have We Forgotten What Tics Are? A Re‐Exploration of Tic Phenomenology in Youth with Primary Tics

Diagnosis and Management of Functional Tic-Like Phenomena

Tourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 gene

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